Diagnosis by symptom

Question 1

Patient presents with: epicanthic folds Upslanting features Hypoplasia in midline Low set, small ears

Answer 1

Down Syndrome (47, +21)

Question 2

Patient presents with: short stature low posterior hairline webbing of the neck coarction of the aorta cubitus valgus

Answer 2

Turner Syndrome (45, X)

Question 2

Patient presents with Aortic dilation myopia iridodonesis arachnodactyly pectus excavatum

Answer 2

Marfan Syndrome

Question 3

Patient presents with 6 cafe-au-lait spots Plexiform neuroma ADHD

Answer 3

Neurofibromatosis Type I

Question 4

Patient presents with tiredness hepatosplenomegaly prominent forehead

Answer 4

alpha thalassemia

Question 4

Patient presents with Feeling exhausted Jaundice Recent History Took quinine Eats fava beans all the time

Answer 4

Glucose-6-Phosphate Deficiency

Question 4

Patient presents with Rapid onset of weight at age 2 Failure to thrive as an infant Small testes

Answer 4

Prader-Willi Syndrome

Question 5

Patient presents with short stature short limbs large head

Answer 5

Achondroplasia

Question 6

Patient presents with seizures hypotrophy of muscles lactic acidosis short stature repeat vomiting

Answer 6

MELAS

Question 8

Patient presents with cleft lip or palate without a midline membrane close set (possibly fused) eyes Polydactyly, clenched fingers and toes cutis aplasia malformed ears

Answer 8

Patau Syndrome (47 +13) with holoprosencephaly

Question 8

Patient presents with Feeling exhausted Social History Preferentially avoids meat, felt worse after eating

Answer 8

Ornithine transcarboxylase deficiency

Question 8

Patient presents with failure to communicate Appears happy all the time Has very jerky arm and leg motions

Answer 8

Angelman Syndrome

Question 9

Patient present with: very tall stature gynecomastia elongated extremities Poor secondary sex characteristic development

Answer 9

Kleinfelter Syndrome (47, XXY)

Question 10

Patient presents with 3 hypopigmented regions on back connective tissue nevi acne-like appearance seizures

Answer 10

Tuberous Sclerosis

Question 11

Patient presents with Failure to acquire development milestones Irascible hand wringing behavior

Answer 11

Retts Syndrome

Question 12

Patient presents with “Greek helmet” facial type Cleft lip and/or cleft palate Poor growth with microcephaly Heart defects

Answer 12

Wolf-Hirschorn Syndrome

Question 14

Patient presents with Stellate iris Periorbital fullness Prominent lips Hypercalcemia Supravalvular aortic stenosis Loquacious behavior

Answer 14

Williams Syndrome

Question 15

Patient presents with Narrowing of the pulmonary trunk at the valve or below it at its infundibulum A ventricular septal defect Right ventricular hypertrophy Aortic valve is situated higher than the VSD

Answer 15

Tetralogy of Fallot

Question 16

Patient presents with wide set eyes Poor growth microcephaly Heart defects Cat like cry

Answer 16

Cri-du-chat Syndrome

Question 18

Patient presents with: small mouth, small jaw, short neck shield chest, short prominent sternum prominent occipital portion malformed ears clenched hands with overlapping fingers flexed big toe cleft palate

Answer 18

Edwards Syndrome (47, +18)

Question 18

Adult patient presents with neurological deficits forgetfulness recent onset

Answer 18

Huntington’s Chorea

Question 19

Patient presents with struggle to release grip droopy facial and jaw muscles diabetes mellitus

Answer 19

Myotonic Dystrophy

Question 20

Patient presents with Facial dysmorphism Cleft palate Immunodeficiency Hypocalcemia Cardiac defects

Answer 20

Velo-cardial-facial syndrome

Question 21

Patient presents with Serious limb malformations Seizures Heart defect Oligodactyly

Answer 21

Fanconi’s Anemia

Question 22

Patient presents with blistering of skin poor hair growth areas of low pigment areas of high pigment abnormal nails

Answer 22

Inconscientia Pigmenti

Question 25

Patient presents with Recurrent lung infections Chronic cough Diarrhea

Answer 25

Cystic Fibrosis with exocrine manifestations

Question 26

Patient presents with Bowed legs Patient’s labs show: Normal calcium Normal Vitamin D Low phosphate

Answer 26

Vitamin D Resistant Rickets

Question 27

Patient presents with Calf hypertrophy Hypotrophic thigh muscles, arm muscles Poor ambulation Cardiomyopathy

Answer 27

Duchenne Muscular Dystrophy

Question 28

Adult patient presents with recent bronzing to skin no outdoor exposure

Answer 28

Hemochromatosis

Question 30

Patient presents with Progressive worsening vision since 13th birthday

Answer 30

Leber Hereditary Optic Neuropathy

Question 31

Patient presents with Severe, full-bodied edema hepatosplenomegaly severe genital malformations

Answer 31

hydrops fetalis